Prenatal diagnosis of del(11)(p13p15).

Prenatal diagnosis of del(11)(p13p15) was made on cultured amniotic fluid cells and confirmed on fetal skin fibroblasts after termination of pregnancy. Both irides appeared behind schedule in development by 2-3 weeks in reference to the gestational age of the fetus. It is suggested that the aniridia of the aniridia--Wilms tumour association is due to developmental arrest. Confirmation of this complex is difficult at mid-gestation without critical pathological study of the eyes.

Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.

We describe a family in which autosomal dominant anterior polar cataracts are segregating in four members over three generations with an apparently balanced reciprocal translocation between chromosomes 2 and 14. We conclude that altered function of a gene or genes on chromosomes 2 or 14 are important in the embryological development of the lens.

Endocrine, cytogenetic and psychometric features of patients with X-isochromosome 46, X, i(Xq) Turner's syndrome: a preliminary study in nine patients.

The 46, X, i(Xq) karyotype of isochromosome for the long arm of the X chromosome has been found to be a frequent structural abnormality in Turner's syndrome. To characterize the endocrine, metabolic, and psychometric features of such patients, nine subjects, aged 12 to 49 years, with this specific cytogenetic abnormality were studied. Although eight of the nine patients had a mosaic chromosome pattern, five had a greater proportion of i(Xq) cells than XO cells, and in four of these the proportion of i(Xq) cells was over 80%. Eight of the nine isochromosomes were metacentric and most had a single C-band. Two subjects were hypothyroid, six had thyroid antibodies present and five had parietal cell antibodies. Oral glucose tolerance testing was abnormal in three and elevated insulin levels were present in an additional two subjects. Psychometric testing showed some discrepancy between verbal and performance I.Q. scores, the performance scores generally being lower. Thus, thyroiditis, insulin insensitivity and diabetes mellitus, parietal cell antibodies, and a relatively low performance I.Q. are found in some of the 46, X, i(Xq) Turner's syndrome patients. The highest thyroid antibodies were present in the four subjects in whom more than 80% of cells were 46, X, i(Xq). Two of these subjects also had diabetes mellitus and three had antiparietal cell antibodies. These findings suggest an association of autoimmune disease with this particular cytogenetic abnormality.

Tubular adenoma of breast.

A recent classification of adenomas of the breast included tubular adenoma. This uncommon lesion can be distinguished from fibroadenoma by the predominance of epithelium and relative lack of stroma. This is, to our knowledge, the first report of a tubular adenoma studied by aspiration cytology as well as light and electron microscopy. A 4-cm, slightly tender mass was found in the upper outer quadrant of the breast of a 26-year-old woman. Aspiration cytology showed abundant epithelial fragments, similar to those seen in fibroadenoma, but without the spindle cell component often seen in aspirates of that lesion. Light microscopic study of the excised mass showed a well-demarcated tumor of tubular glands and scanty stroma. By electron microscopy, the epithelial stromal junction was intact. This contrasts with the findings in fibroadenoma, and confirms that this difference can distinguish these lesions.